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Kabuki make-up syndrome and hearing impairment.
Clin Dysmorphol. 1993 Jan; 2(1):68-70.CD

Abstract

In 1981, Niikawa et al. and Kuroki et al. independently described patients with a new syndrome consisting of mental retardation, postnatal growth deficiency and unusual facial features such as long palpebral fissures with eversion of the lateral one-third of the lower eyelids, arched and laterally sparse eyebrows and large prominent ears among other malformations. The condition has been called Kabuki make-up syndrome because the facial features in affected individuals resemble the make-up of the actors in a Japanese play: Kabuki. After the initial reports on Japanese individuals, the condition has been observed in several other patients of different ethnic origins including a few patients from this country (Kaiser-Kupfer et al., 1986; Pagon et al., 1986). We describe an additional 13-year-old male patient with Kabuki make-up syndrome with possible implication of autosomal dominant inheritance from his mother. Interestingly, our patient also displayed hitherto unreported severe ossicular malformations resulting in significant hearing impairment.

Authors+Show Affiliations

H. Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, OK 74135.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8298741

Citation

Say, B, et al. "Kabuki Make-up Syndrome and Hearing Impairment." Clinical Dysmorphology, vol. 2, no. 1, 1993, pp. 68-70.
Say B, McCutcheon L, Todd C, et al. Kabuki make-up syndrome and hearing impairment. Clin Dysmorphol. 1993;2(1):68-70.
Say, B., McCutcheon, L., Todd, C., & Hough, J. V. (1993). Kabuki make-up syndrome and hearing impairment. Clinical Dysmorphology, 2(1), 68-70.
Say B, et al. Kabuki Make-up Syndrome and Hearing Impairment. Clin Dysmorphol. 1993;2(1):68-70. PubMed PMID: 8298741.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kabuki make-up syndrome and hearing impairment. AU - Say,B, AU - McCutcheon,L, AU - Todd,C, AU - Hough,J V, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 68 EP - 70 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 2 IS - 1 N2 - In 1981, Niikawa et al. and Kuroki et al. independently described patients with a new syndrome consisting of mental retardation, postnatal growth deficiency and unusual facial features such as long palpebral fissures with eversion of the lateral one-third of the lower eyelids, arched and laterally sparse eyebrows and large prominent ears among other malformations. The condition has been called Kabuki make-up syndrome because the facial features in affected individuals resemble the make-up of the actors in a Japanese play: Kabuki. After the initial reports on Japanese individuals, the condition has been observed in several other patients of different ethnic origins including a few patients from this country (Kaiser-Kupfer et al., 1986; Pagon et al., 1986). We describe an additional 13-year-old male patient with Kabuki make-up syndrome with possible implication of autosomal dominant inheritance from his mother. Interestingly, our patient also displayed hitherto unreported severe ossicular malformations resulting in significant hearing impairment. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8298741/Kabuki_make_up_syndrome_and_hearing_impairment_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8298741.ui DB - PRIME DP - Unbound Medicine ER -